Variant report

Variant	nsv962129
Chromosome Location	chr2:50782384-50785434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50783410..50785282-chr2:50787313..50790296,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189840285	chr2:50782395-50782396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564409380	chr2:50782430-50782431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76161497	chr2:50782451-50782452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75045341	chr2:50782483-50782484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568417931	chr2:50782554-50782555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61585307	chr2:50782558-50782559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550779979	chr2:50782593-50782594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79186182	chr2:50782596-50782597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11675550	chr2:50782599-50782600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557872526	chr2:50782609-50782610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62142291	chr2:50782666-50782667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181411870	chr2:50782667-50782668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555361306	chr2:50782694-50782695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369255249	chr2:50782721-50782722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574000056	chr2:50782722-50782723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536403173	chr2:50782723-50782724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544489351	chr2:50782773-50782774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556475196	chr2:50782784-50782785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115569244	chr2:50782794-50782795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373716190	chr2:50782800-50782801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13386583	chr2:50782859-50782860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573069171	chr2:50782888-50782889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528531637	chr2:50782889-50782890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185547151	chr2:50782920-50782921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62142292	chr2:50782944-50782945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562030139	chr2:50782962-50782963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529567047	chr2:50782991-50782992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550892309	chr2:50782992-50782993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530883921	chr2:50783005-50783006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376131203	chr2:50783183-50783184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369672474	chr2:50783199-50783200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563028584	chr2:50783209-50783210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61134387	chr2:50783229-50783230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78244342	chr2:50783233-50783234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566568360	chr2:50783253-50783254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78723515	chr2:50783321-50783322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533837496	chr2:50783363-50783364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549021309	chr2:50783423-50783424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544618002	chr2:50783431-50783432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567296541	chr2:50783446-50783447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529394095	chr2:50783528-50783529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373467652	chr2:50783555-50783556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117064285	chr2:50783573-50783574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558387581	chr2:50783643-50783644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199504883	chr2:50783658-50783659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200020022	chr2:50783673-50783674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182942703	chr2:50783729-50783730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547158271	chr2:50783736-50783737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577858137	chr2:50783756-50783757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538830848	chr2:50783771-50783772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50766200-50791800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:50780000-50791400	Weak transcription	Brain Germinal Matrix	brain
3	chr2:50780200-50784000	Weak transcription	Fetal Heart	heart
4	chr2:50783200-50785800	Enhancers	Hela-S3	cervix
5	chr2:50783800-50785000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:50784000-50785200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:50784000-50785200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:50784000-50785200	Enhancers	NH-A	brain
9	chr2:50784000-50785600	Enhancers	Fetal Heart	heart
10	chr2:50784200-50784400	Enhancers	HMEC	breast
11	chr2:50784200-50784600	Enhancers	Stomach Mucosa	stomach
12	chr2:50784200-50785000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:50784200-50785400	Enhancers	NHEK	skin
14	chr2:50784400-50785200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:50784600-50785200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:50784600-50785400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:50785000-50785200	Enhancers	HMEC	breast
18	chr2:50785000-50785400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:50785000-50785800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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